Mutagenetix > Incidental Mutation

Incidental Mutation 'R4962:Spats2l'

381792

Institutional Source

Beutler Lab

Gene Symbol

Spats2l

Ensembl Gene

ENSMUSG00000038305

Gene Name

spermatogenesis associated, serine-rich 2-like

Synonyms

A230104H11Rik, 2810022L02Rik

MMRRC Submission

042559-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57774162-57948394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57885824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 127 (H127R)

Ref Sequence

ENSEMBL: ENSMUSP00000128764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000167971] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068] [ENSMUST00000172287]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000163239

SMART Domains

Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305

Domain	Start	End	E-Value	Type
Pfam:DUF1387	1	261	9.7e-124	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164302
AA Change: H107R

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: H107R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	149	3.6e-25	PFAM
Pfam:DUF1387	146	299	1.6e-93	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167085
AA Change: H127R

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: H127R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	388	1.8e-130	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167971
AA Change: H127R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: H127R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	130	4.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169772
AA Change: H107R

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: H107R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170139
AA Change: H107R

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: H107R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	59	368	5.6e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171699
AA Change: H127R

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: H127R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	169	1.2e-25	PFAM
Pfam:DUF1387	167	270	2e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172068
AA Change: H127R

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: H127R

Domain	Start	End	E-Value	Type
Pfam:DUF1387	79	244	5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172287

SMART Domains

Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305

Domain	Start	End	E-Value	Type
low complexity region	84	96	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,472,808	F317L	possibly damaging	Het
Abcc4	A	G	14: 118,668,399	I85T	probably benign	Het
Acoxl	G	T	2: 128,075,890	C498F	probably damaging	Het
Akap13	C	T	7: 75,749,430	T2752I	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ap2a2	T	G	7: 141,630,148	F836C	probably damaging	Het
Atp2c1	A	G	9: 105,442,950	V404A	probably benign	Het
Atp7b	G	T	8: 22,020,885	A415E	probably damaging	Het
Babam2	A	T	5: 31,785,583	I71L	possibly damaging	Het
Bean1	A	G	8: 104,216,974	T54A	probably damaging	Het
Cacna1b	T	A	2: 24,618,318	I1816F	probably damaging	Het
Cacna1b	C	T	2: 24,657,366	G1202D	probably damaging	Het
Casp8ap2	A	G	4: 32,640,554	E536G	probably damaging	Het
Cfap57	A	G	4: 118,613,065	V206A	probably benign	Het
Clca2	A	T	3: 145,077,879	D658E	probably damaging	Het
Cwc22	A	T	2: 77,896,309	S809T	probably benign	Het
Cyp2c54	C	T	19: 40,072,141	R132Q	possibly damaging	Het
Ddx20	A	T	3: 105,680,605	D386E	possibly damaging	Het
Ddx50	T	C	10: 62,642,853	T185A	probably damaging	Het
Decr1	G	A	4: 15,930,976	R119*	probably null	Het
Dennd4a	T	C	9: 64,906,003	S1415P	probably benign	Het
Dnah12	A	T	14: 26,716,700	I495L	probably benign	Het
Dnah2	G	A	11: 69,455,973	Q2596*	probably null	Het
Dnajb13	A	G	7: 100,507,500	L123S	probably benign	Het
Elavl3	G	A	9: 22,036,811	P19L	probably benign	Het
Fer1l6	T	C	15: 58,571,401	S518P	probably benign	Het
Fgd3	T	C	13: 49,266,629	S591G	probably benign	Het
Galnt18	C	A	7: 111,472,064	R566L	probably benign	Het
Galnt6	A	T	15: 100,696,574	Y525*	probably null	Het
Gm10036	A	T	18: 15,833,302	Y170F	probably benign	Het
Hacd2	A	G	16: 35,022,551	D24G	unknown	Het
Idh3a	T	C	9: 54,596,041	M128T	possibly damaging	Het
Ido1	C	T	8: 24,584,549	M359I	probably benign	Het
Ikbkb	T	C	8: 22,681,677	T185A	probably damaging	Het
Insl6	C	T	19: 29,321,619	G131D	probably damaging	Het
Irgm1	A	C	11: 48,866,332	S217R	possibly damaging	Het
Itga11	T	A	9: 62,761,568	Y702*	probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kansl2	T	C	15: 98,531,843	M103V	probably benign	Het
Kcnq2	T	C	2: 181,112,043	N258S	possibly damaging	Het
Kdm5d	A	T	Y: 940,624	D1045V	probably damaging	Het
Lats2	A	G	14: 57,699,592	L480P	probably damaging	Het
Lin28b	T	A	10: 45,420,640	K87N	possibly damaging	Het
Lpgat1	T	A	1: 191,719,570	W103R	probably damaging	Het
Lpl	G	T	8: 68,894,693	G166C	probably damaging	Het
Ly75	A	T	2: 60,352,125	Y569N	probably damaging	Het
Mcm8	A	T	2: 132,838,769	E564D	probably damaging	Het
Me2	G	T	18: 73,785,776	N411K	probably damaging	Het
Mn1	A	G	5: 111,454,786	T1297A	possibly damaging	Het
Mphosph8	T	A	14: 56,678,589	F447L	probably benign	Het
Nacad	T	A	11: 6,599,169	D1294V	probably damaging	Het
Neu3	A	T	7: 99,823,408	F41I	probably damaging	Het
Nlrp6	G	T	7: 140,923,584	L534F	probably damaging	Het
Nrap	A	G	19: 56,378,143	M338T	probably damaging	Het
Nuak1	T	C	10: 84,375,115	K370E	probably damaging	Het
Olfr1151	A	G	2: 87,857,288	T38A	probably benign	Het
Olfr1425	T	A	19: 12,074,275	D119V	probably damaging	Het
Olfr479	T	A	7: 108,055,440	C153S	probably benign	Het
Olfr805	C	T	10: 129,722,723	V274M	probably damaging	Het
P3h3	T	C	6: 124,841,773	S701G	probably benign	Het
Pdss2	T	C	10: 43,298,912	M138T	possibly damaging	Het
Piezo1	C	T	8: 122,486,481	E1848K	probably benign	Het
Prmt3	T	G	7: 49,826,809	S389A	probably benign	Het
Prrxl1	G	T	14: 32,647,144		probably benign	Het
Prune2	T	A	19: 17,122,273	F1714I	probably benign	Het
Ptgis	A	G	2: 167,225,274		probably null	Het
Ptpn20	T	C	14: 33,614,459	V85A	probably benign	Het
Rabepk	A	T	2: 34,780,657	Y264N	probably damaging	Het
Ralgapa2	A	T	2: 146,434,834	C495*	probably null	Het
Satb2	A	G	1: 56,891,168	I232T	probably benign	Het
Selenbp2	A	T	3: 94,703,549	L307F	probably damaging	Het
Sgpl1	T	G	10: 61,114,084	Y112S	probably damaging	Het
Slitrk5	T	C	14: 111,681,247	S768P	probably benign	Het
Smc3	T	A	19: 53,631,517	Y615N	probably damaging	Het
Spag17	A	G	3: 100,027,623	N715S	probably benign	Het
Spats2	A	G	15: 99,212,276	E518G	probably benign	Het
Tenm3	T	A	8: 48,278,961	K1287*	probably null	Het
Thoc1	T	A	18: 9,962,387	S91T	probably benign	Het
Thoc6	C	T	17: 23,669,937	G166S	probably damaging	Het
Tmem107	C	A	11: 69,071,261	T42N	possibly damaging	Het
Tmprss11c	A	G	5: 86,237,710	I288T	probably damaging	Het
Tnrc18	A	G	5: 142,739,493	F1827S	unknown	Het
Trmt112	C	A	19: 6,910,198	T5N	probably damaging	Het
Trp53bp1	A	T	2: 121,270,546	M57K	probably benign	Het
Ttbk2	C	A	2: 120,745,150	Q1115H	probably damaging	Het
Ttn	C	A	2: 76,729,645	E27725*	probably null	Het
Ttn	A	G	2: 76,944,109	M2151T	probably damaging	Het
Usp9y	A	T	Y: 1,384,336	D727E	probably damaging	Het
Vps13c	A	G	9: 67,873,891	T221A	probably damaging	Het
Zbtb20	A	G	16: 43,618,692	D725G	probably damaging	Het
Zfp341	A	T	2: 154,626,814	I126F	possibly damaging	Het
Zfyve16	C	T	13: 92,513,894	A861T	probably damaging	Het

Other mutations in Spats2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Spats2l	APN	1	57943072	missense	probably damaging	1.00
IGL00788:Spats2l	APN	1	57885705	missense	probably damaging	1.00
IGL01627:Spats2l	APN	1	57902082	splice site	probably benign
IGL01758:Spats2l	APN	1	57879556	missense	probably damaging	1.00
IGL03395:Spats2l	APN	1	57938016	missense	probably damaging	1.00
P0033:Spats2l	UTSW	1	57885838	missense	probably damaging	0.99
R0762:Spats2l	UTSW	1	57885884	missense	possibly damaging	0.88
R1167:Spats2l	UTSW	1	57943111	missense	probably damaging	1.00
R1486:Spats2l	UTSW	1	57900811	missense	probably damaging	0.99
R1564:Spats2l	UTSW	1	57946224	missense	probably damaging	1.00
R1938:Spats2l	UTSW	1	57885782	missense	probably benign	0.32
R2071:Spats2l	UTSW	1	57940464	missense	possibly damaging	0.90
R2096:Spats2l	UTSW	1	57946299	missense	probably benign	0.00
R2215:Spats2l	UTSW	1	57946416	missense	possibly damaging	0.82
R3053:Spats2l	UTSW	1	57900766	missense	probably damaging	1.00
R3784:Spats2l	UTSW	1	57885779	missense	probably damaging	0.99
R4814:Spats2l	UTSW	1	57937926	missense	possibly damaging	0.83
R4915:Spats2l	UTSW	1	57902188	missense	probably damaging	1.00
R5022:Spats2l	UTSW	1	57879556	missense	probably damaging	1.00
R5068:Spats2l	UTSW	1	57943221	missense	probably benign
R5561:Spats2l	UTSW	1	57900621	splice site	probably null
R5773:Spats2l	UTSW	1	57879549	missense	possibly damaging	0.86
R5885:Spats2l	UTSW	1	57946162	missense	probably damaging	0.96
R6136:Spats2l	UTSW	1	57902143	missense	probably damaging	1.00
R6651:Spats2l	UTSW	1	57946177	missense	probably damaging	1.00
R6929:Spats2l	UTSW	1	57879536	missense	probably damaging	1.00
R7030:Spats2l	UTSW	1	57879530	missense	probably damaging	1.00
R7176:Spats2l	UTSW	1	57937918	missense	possibly damaging	0.89
R7274:Spats2l	UTSW	1	57879513	nonsense	probably null
R7342:Spats2l	UTSW	1	57885947	missense	possibly damaging	0.91
R7387:Spats2l	UTSW	1	57902134	missense	probably damaging	1.00
R7459:Spats2l	UTSW	1	57799353	splice site	probably benign
R9239:Spats2l	UTSW	1	57832098	start gained	probably benign
X0054:Spats2l	UTSW	1	57943243	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTTATCACAGCCTCCACTGAAC -3'
(R):5'- ATCCTGTGTAGCAGCAGCAG -3'

Sequencing Primer
(F):5'- ACTGAACATCAATACTGTTTTCCC -3'
(R):5'- TGTAGCAGCAGCAGCAACAG -3'

Posted On

2016-04-27